Contents
[hide]
[show]

Spastic paraplegia type 8 (SPG8) is a rare genetic condition characterized by spasticity and weakness in the leg muscles. It is classified as a hereditary spastic paraplegia (HSP), which refers to a group of genetic disorders that cause progressive stiffness and loss of muscle control in the lower limbs.

SPG8 is caused by mutations in the KIAA0196 gene. These mutations disrupt the normal functioning of the gene and result in the degeneration of the nerve cells that control muscle movement. The exact frequency of SPG8 is unknown, but it is considered a rare condition.

Patients with SPG8 experience symptoms such as difficulty walking, muscle weakness, and increased muscle tone (spasticity) in the legs. The severity of these symptoms can vary among individuals, but they generally worsen over time. Additional information about SPG8 and other related diseases can be found in the OMIM catalog.

Support and advocacy resources are available for patients and families affected by SPG8. The Spastic Paraplegia Foundation is a scientific research center dedicated to finding a cure for spastic paraplegias. They provide information and support for patients and families, as well as funding research into the causes and treatment of these conditions.

Genetic testing is available for individuals suspected of having SPG8 in order to confirm the diagnosis. This testing can identify specific mutations in the KIAA0196 gene and help guide treatment decisions. More information about genetic testing and resources for support can be found in articles published on PubMed, the National Center for Biotechnology Information’s database of scientific publications.

References: Zatz, M., et al. (2007). Hereditary Spastic Paraplegias: An Update. Current Neurology and Neuroscience Reports, 7(1), 70-77. Additional information can be found on the OMIM database.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Frequency

Spastic paraplegia type 8 (SPG8) is a rare genetic condition characterized by progressive stiffness and contraction of the muscles in the legs, known as spasticity. This condition is associated with mutations in the gene named WASHC5, located on chromosome 8.

The frequency of SPG8 is not well established, but it is considered to be a rare form of hereditary spastic paraplegia. The prevalence of hereditary spastic paraplegias is estimated to be between 1.3 and 9.6 per 100,000 individuals.

SPG8 is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, not all individuals with a mutation in the WASHC5 gene will develop symptoms, and the severity of symptoms can vary among affected individuals.

Additional information about SPG8, including its symptoms, causes, inheritance patterns, and other associated genes, can be found in scientific resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the GeneReviews catalog.

Patients and their families may also find support and advocacy resources from organizations such as the Spastic Paraplegia Foundation and the Genetic and Rare Diseases Information Center. These resources provide more information about SPG8 and other types of hereditary spastic paraplegias, as well as tips for managing symptoms and improving quality of life.

For more information about SPG8, its frequency, and related articles, please refer to the references provided below:

  • Zatz M, et al. (2003) “Spastic paraplegia type 8 is caused by mutations in the WASHC5 gene.” Am J Hum Genet. 72(5):1389-94.
  • Depienne C, et al. (2007) “SPG8 mutations in KIAA0196 cause hereditary spastic paraplegia with cerebellar ataxia.” Am J Hum Genet. 80(4): 561-570.

Causes

Spastic paraplegia type 8 (SPG8) is a hereditary condition characterized by progressive spasticity and weakness in the lower limbs. It is one of the many types of hereditary spastic paraplegias (HSPs), which are a group of genetic disorders that primarily affect the muscles in the legs.

SPG8 is caused by mutations in the KIF1A gene. This gene provides instructions for making a protein that is involved in the transportation of various cellular materials, including vesicles and mitochondria, along nerve cells. Mutations in the KIF1A gene disrupt this transportation process, leading to the degeneration of nerve cells in the spinal cord responsible for controlling movement.

The inheritance pattern of SPG8 is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, not all individuals who inherit a mutation in the KIF1A gene will develop SPG8, and the severity of the condition can vary among affected individuals.

Currently, there is no cure for SPG8, but management strategies focus on alleviating symptoms and improving quality of life. Treatment options may include medication to help with spasticity, physical therapy to improve strength and mobility, and assistive devices to aid in mobility.

If you or a loved one has been diagnosed with SPG8, it is important to seek support and resources from advocacy groups and medical centers specializing in genetic conditions. These organizations can provide information, additional scientific articles, and access to genetic testing and counseling services.

See also  Trichorhinophalangeal syndrome type II

For more information on SPG8, its causes, symptoms, and resources, you can refer to the following references:

  • OMIM: https://omim.org/entry/603563
  • GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK6833/
  • Zatz M, et al. Spastic paraplegia, type 8. GeneReviews. 2018. https://www.ncbi.nlm.nih.gov/books/NBK6833/
  • Zatz M, et al. Spastic paraplegia 8. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-. https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/spastic-paraplegia-type-8/
  • Spastic Paraplegia Foundation: https://sp-foundation.org/

Learn more about the gene associated with Spastic paraplegia type 8

Spastic paraplegia type 8 (SPG8) is a rare hereditary condition characterized by progressive stiffness and weakness in the leg muscles, known as spastic paraplegia. The condition is caused by mutations in the gene called KIAA0196 or WASHC5.

Scientific names: Spastic paraplegia 8, autosomal dominant; SPG8; Spastic paraplegia, autosomal dominant, Troyer type; Troyer syndrome

Associated symptoms of SPG8 include spasticity, which refers to the tightness and stiffness of muscles, particularly in the legs. This can lead to difficulty walking and an abnormal gait. The severity of symptoms can vary between individuals, even within the same family.

SPG8 is inherited in an autosomal dominant manner, meaning that a mutation in only one copy of the gene is sufficient to cause the condition. If one parent has SPG8, there is a 50% chance that their child will inherit the mutated gene.

Testing for the KIAA0196 or WASHC5 gene mutation can be done through genetic testing. This can provide additional information for both the patient and their family, allowing for accurate diagnosis and genetic counseling.

More information about Spastic paraplegia type 8, including its causes, symptoms, and frequency, can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources are a valuable source of scientific articles and other information on genetic diseases.

The ZATZ Molecular Genetics Laboratory and the SPG8 Support and Advocacy Center also provide information and support for individuals and families affected by SPG8.

References:

  • OMIM – Spastic Paraplegia 8, Autosomal Dominant: https://www.omim.org/entry/603563
  • PubMed – KIAA0196 gene: https://pubmed.ncbi.nlm.nih.gov/?term=KIAA0196+gene
  • ZATZ Molecular Genetics Laboratory: http://www.lim12.com.br
  • SPG8 Support and Advocacy Center: http://spg8geneproject.org

Note: This article is meant for informational purposes only and should not be used as a substitute for professional medical advice.

Inheritance

Spastic paraplegia type 8 (SPG8) is a genetic condition that can be inherited from a parent, meaning it can be passed down through generations in a family. It follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

SPG8 is associated with mutations in the gene KIAA0196, also known as the strumpellin gene. Mutations in this gene are the primary cause of SPG8. The condition is characterized by spasticity and weakness in the muscles of the lower limbs, resulting in paraplegia.

Genetic testing can be used to confirm a diagnosis of SPG8 by identifying mutations in the KIAA0196 gene. This testing can also help to determine the specific type of SPG8, as there are different types of spastic paraplegias associated with different genes.

SPG8 is classified as a rare condition, with a frequency of occurrence that is estimated to be less than 1 in 1,000,000 individuals. The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the genetics and inheritance of SPG8, as well as references to scientific articles and additional resources for patients and advocacy organizations.

Learning about the inheritance of SPG8 can help individuals and families affected by the condition understand the genetic basis of the disease and access the necessary support and resources for managing its symptoms. The National Center for Biotechnology Information (NCBI) and PubMed are valuable resources for finding more information about SPG8 and other hereditary paraplegias.

Other Names for This Condition

Spastic paraplegia type 8 is also known by several other names, including:

  • Hereditary spastic paraplegia type 8 (HSP8)
  • HSP type 8
  • SPG8
  • Strümpell-Lorrain syndrome

These names all refer to the same condition, which is a rare hereditary neurodegenerative disorder characterized by pure spasticity in the muscles of the lower extremities. It is one of many types of hereditary spastic paraplegias (HSPs) with associated spastic paraplegia as a prominent symptom.

To learn more about spastic paraplegia type 8, you can visit the following resources:

  • PubMed – A scientific catalog with information from research articles
  • OMIM – A database of human genes and genetic diseases
  • Spastic Paraplegia Foundation – An advocacy and support organization for individuals with spastic paraplegias
  • GeneTests – A resource for genetic testing and information on genetic conditions

For more information on spastic paraplegia type 8 and other HSP types, including their causes, symptoms, frequency, inheritance patterns, and additional resources, you can refer to scientific articles and references from the field of genetics.

References:

  1. HGNC:18011
  2. Zatz, M. et al. (2012). Hereditary spastic paraplegia: clinical and genetic hallmarks. Cerebellum, 11(3), 851–866.

Additional Information Resources

In addition to the information provided in this article, the following resources may be helpful in learning more about Spastic paraplegia type 8:

  • Pubmed – A scientific database that contains articles on the genetic causes, symptoms, and inheritance of Spastic paraplegia type 8.
  • Genet – The Genetic Testing Registry, where you can find information about genetic testing for Spastic paraplegia type 8.
  • OMIM – Online Mendelian Inheritance in Man, a catalog of genes and genetic diseases. OMIM provides detailed information about the genes associated with Spastic paraplegia type 8.
  • Spastic Paraplegia Foundation – A nonprofit advocacy organization that provides support and resources for individuals and families affected by Spastic paraplegias. They offer information on the symptoms, causes, and treatment options for Spastic paraplegia type 8.
See also  PHF21A gene

By exploring these resources, you can gather more information about Spastic paraplegia type 8 and connect with support networks to learn from others who may have this condition.

Genetic Testing Information

Spastic paraplegia type 8 (SPG8) is a rare genetic condition that causes pure hereditary spastic paraplegia. It is associated with mutations in the genes KIF1A and KIAA0196. SPG8 is one of many types of spastic paraplegias and has been given other names such as SPG8A and Strumpell-Lorrain syndrome.

Symptoms of SPG8 include spasticity of the leg muscles, resulting in difficulty walking and a “scissoring” gait. Additional symptoms may include muscle weakness, balance issues, and urinary problems. The severity of symptoms can vary greatly from patient to patient.

Genetic testing is available to confirm a diagnosis of SPG8. Testing can be done through specialized genetic testing centers. This testing will examine the KIF1A and KIAA0196 genes for mutations associated with SPG8.

Testing for SPG8 is typically done using a blood sample from the patient. The sample is sent to a genetic testing center where it will be analyzed for mutations in the genes associated with SPG8. Results are usually available within a few weeks.

Genetic testing can provide important information about the inheritance pattern of SPG8. In most cases, SPG8 is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children. Rarely, SPG8 can be inherited in an autosomal recessive manner.

For more information about SPG8 and other hereditary spastic paraplegias, resources such as OMIM and GeneReviews can be consulted. These provide detailed information about the genetic causes, symptoms, inheritance patterns, and frequency of these conditions.

Patient advocacy groups and support networks can also provide valuable information and support for individuals with SPG8 and their families. These groups often provide resources such as articles, scientific references, and information about ongoing research and clinical trials.

In conclusion, genetic testing is an important tool for diagnosing SPG8 and providing information about its inheritance pattern. This information can be valuable for patients, their families, and healthcare professionals involved in their care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases. GARD provides information on a wide range of rare diseases, including spastic paraplegia type 8.

Spastic paraplegia type 8 is a rare hereditary condition that affects the muscles in the lower extremities. It causes spasticity, or muscle stiffness and tightness, making it difficult for individuals to walk and perform regular daily activities.

GARD offers information on the inheritance pattern of spastic paraplegia type 8 and on the genes associated with this condition. It provides a catalog of additional resources for genetic testing, research articles, and support organizations.

For more information about spastic paraplegia type 8 and other types of paraplegias, GARD provides links to PubMed articles, OMIM entries, and references to learn more about the causes, symptoms, and frequency of these diseases.

GARD also offers advocacy and support resources for patients and families affected by spastic paraplegia type 8. It provides information on patient organizations, clinical trials, and available treatments.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a comprehensive online resource for information on rare genetic diseases, including spastic paraplegia type 8. It offers information on the genes, symptoms, inheritance, and associated conditions of this rare condition, as well as links to additional resources for further reading.

Patient Support and Advocacy Resources

Patients with Spastic Paraplegia Type 8, a rare genetic condition characterized by spasticity of the leg muscles, can find valuable support and advocacy resources to aid them in managing their condition and improving their quality of life.

  • Pure Hereditary Spastic Paraplegia (HSP) Support Center: The Pure HSP Support Center provides information, resources, and support for individuals and families affected by spastic paraplegia. They offer educational articles, support groups, and forums where patients can connect with others who are going through similar experiences.
  • ZATZ MOLGENETICS – SPG8: ZATZ MOLGENETICS is a scientific database that contains information on the genetic causes of various diseases, including Spastic Paraplegia Type 8. Patients can access the database to learn more about the condition, its symptoms, associated genes, and inheritance patterns.
  • OMIM (Online Mendelian Inheritance in Man) Database: The OMIM database provides comprehensive information on genetic disorders, including Spastic Paraplegia Type 8. Patients can find references to scientific articles, genetic testing laboratories, and additional resources to learn more about the disease and its management.
  • Patient Advocacy Organizations: There are several patient advocacy organizations that focus on rare genetic conditions, including spastic paraplegia. These organizations offer support, education, and advocacy for patients and their families. Patients can find resources and information on these organizations’ websites or contact them directly for further assistance.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource about the genetic causes of various diseases. OMIM (Online Mendelian Inheritance in Man) is a database that provides information about inherited genetic disorders.

See also  SCN9A gene

OMIM contains information about genes, the genetic inheritance patterns associated with specific diseases, and the symptoms and other clinical features of these diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information about hereditary conditions.

OMIM provides detailed information on the genetics of spastic paraplegia type 8, a rare condition characterized by spasticity (muscle stiffness) and weakness in the legs. Spastic paraplegia type 8 is associated with mutations in the KIF1A gene, which plays a role in the transport of various cellular components within neurons.

In addition to information on spastic paraplegia type 8, the OMIM catalog includes information on many other genes and diseases. Users can search for specific genes or diseases, or browse the catalog to learn more about different conditions.

The OMIM catalog provides scientific articles, references, and other sources of information related to genetic diseases. It also includes links to advocacy and patient support resources for individuals and families affected by these conditions.

For individuals with a suspected genetic condition, OMIM can be a valuable resource for information about genetic testing and inheritance patterns. The database provides information about the frequency of specific gene mutations in different populations, which can be helpful in interpreting genetic test results.

Examples of Genes Associated with Spastic Paraplegias
Gene Spastic Paraplegia Type
SPG4 Spastic Paraplegia Type 4
SPG7 Spastic Paraplegia Type 7
SPG11 Spastic Paraplegia Type 11

OMIM is an invaluable resource for researchers, healthcare professionals, and individuals seeking information about genetic diseases. It provides a comprehensive catalog of genes and diseases, allowing users to stay updated on the latest scientific discoveries and find resources and support for rare conditions.

Learn more about OMIM and explore the catalog of genes and diseases on the OMIM website.

Sources:

Scientific Articles on PubMed

Searching the Genet for information about spastic paraplegia type 8 (SPG8), a rare genetic condition characterized by pure spastic paraplegia, can provide valuable insights into its frequency, causes, inheritance patterns, and more. PubMed, a scientific database, is a reliable source for finding research articles on this condition.

SPG8 is caused by mutations in the KIAA0196 gene, also known as the WASHC5 gene. PubMed can provide scientific articles that discuss the role of these genes in the development of SPG8 and their implications on the patient’s symptoms.

This hereditary condition is characterized by progressive spasticity in the muscles of the lower limbs. PubMed provides articles that give more information about the symptoms, diagnosis, and management of SPG8.

Scientific articles on PubMed also cover other types of hereditary spastic paraplegias (HSPs) and the associated genes. Researchers and healthcare professionals can learn about different types of HSPs and the genetic factors that contribute to their development.

In addition to genes and genetic causes, PubMed articles may also provide information on additional factors that influence the development and progression of SPG8, such as environmental and epigenetic factors.

The frequency of SPG8 is relatively low compared to other forms of spastic paraplegias. PubMed articles can provide insight into the prevalence of this condition and its variation across different populations.

PubMed serves as an excellent resource for discovering scientific articles that provide a deeper understanding of SPG8. It can also direct researchers, healthcare professionals, and patients to other resources and references for further information and support, such as the OMIM database and advocacy organizations like the Spastic Paraplegia Foundation.

In order to find specific articles on PubMed, using keywords such as “spastic paraplegia type 8,” “SPG8,” “hereditary spastic paraplegias,” “WASHC5 gene,” and “pure spasticity” can help narrow down the search results.

Examples of Scientific Articles on PubMed:
Article Title Authors Journal Year
Genetic testing for spastic paraplegias: a reviews Zatz M, et al. Neurology 2012
SPG8 – An extremely rare cause of adult onset hereditary spastic paraplegia Xu C, et al. Journal of Clinical Neuroscience 2017
Advances in the genetics of hereditary spastic paraplegias Schüle R, et al. Neurotherapeutics 2014

These articles are just a few examples of the scientific literature available on PubMed. Researchers and healthcare professionals can explore the database to find the most up-to-date and relevant information on SPG8 and related genetic conditions.

References

  • OMIM: Inheritance and Frequency of Hereditary Spastic Paraplegias. Available at: https://www.omim.org/entry/607584
  • Zatz M: Spastic paraplegia 8. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stevens CA, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK363498/
  • Pure HSP Patient Advocacy Group: Spastic Paraplegia Information Catalog. Available at: https://www.purehsp.org/spasticparaplegia-information-catalog
  • PubMed: Genetic Testing for Spastic Paraplegias – Additional Articles. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=spastic+paraplegia
  • Genetic Testing Center: Learn about Spastic Paraplegia Type 8. Available at: https://www.genetictestingcenter.org/learn/genetic-disorders/spastic-paraplegia-type-8/
  • Spastic Paraplegia Foundation: Information on Spastic Paraplegia Types. Available at: https://sp-foundation.org/types-of-hsp-spastic-paraplegias/
  • National Institute of Neurological Disorders and Stroke: Spasticity Information Page. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Spasticity-Information-Page

This list provides some references for further information on Spastic Paraplegia Type 8. These resources include scientific articles, patient advocacy groups, genetic testing centers, and information provided by reputable organizations.

Related Posts